CCFDN - congenital cataracts, facial dysmorphism and neuropathy

disorder

SNOMED 702433001CUI C1858726

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Abnormal peripheral nerve transmission

Very frequent (80-99%)HP:0003134

Cataract

Very frequent (80-99%)HP:0000518

Contractures of the toes

Very frequent (80-99%)HP:0005830

Decreased corneal diameter

Very frequent (80-99%)HP:0000482

Decreased size of eyeball

Very frequent (80-99%)HP:0000568

Finger joint contracture

Very frequent (80-99%)HP:0034681

Hunched back

Very frequent (80-99%)HP:0002808

Hyperplasia of malar bones

Very frequent (80-99%)HP:0010620

Hypoplastic mandible condyle

Very frequent (80-99%)HP:0000347

Intrauterine growth retardation, IUGR

Very frequent (80-99%)HP:0001511

Involuntary, rapid, rhythmic eye movements

Very frequent (80-99%)HP:0000639

Isolated hypogonadotropic hypogonadism

Very frequent (80-99%)HP:0000044

Mental and motor retardation

Very frequent (80-99%)HP:0001263

Mental retardation, mild

Very frequent (80-99%)HP:0001256

Paresthesia

Very frequent (80-99%)HP:0003401

Peripheral hypomyelination

Very frequent (80-99%)HP:0007182

Sensory neuropathy

Very frequent (80-99%)HP:0000763

Squint

Very frequent (80-99%)HP:0000486

Cerebral cortex atrophy

Frequent (30-79%)HP:0002120

Cobb angle greater than ten degrees

Frequent (30-79%)HP:0002650

Hyperintensity of cerebral white matter on MRI

Frequent (30-79%)HP:0030890

Osteoporosis

Frequent (30-79%)HP:0000939

Abnormal finger-nose-finger test

Occasional (5-29%)HP:0001310

Acute rhabdomyolysis

Occasional (5-29%)HP:0008942

Ataxia

Occasional (5-29%)HP:0001251

Cerebellar tremor

Occasional (5-29%)HP:0002080

Cervical vertebral anomalies

Occasional (5-29%)HP:0003319

Choreatic disease

Occasional (5-29%)HP:0002072

Corticospinal signs

Occasional (5-29%)HP:0007256

Decreased testicular size

Occasional (5-29%)HP:0008734

Related Conditions

Congenital anomaly of eye(parent)

Hereditary disorder of the visual system(parent)

Congenital anomaly of the peripheral nervous system(parent)

Hereditary disorder of nervous system(parent)

Recessive hereditary disorder (autosomal)(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 702433001
UMLS CUI: C1858726
Fully Specified Name: Congenital cataracts, facial dysmorphism and neuropathy (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.